Mutations of elastin gene exon 20,24,25 in the pelvic floor dysfunction
10.3760/cma.j.issn.1008-1372.2011.11.006
- VernacularTitle:elastin基因exon20、24、25的变异与盆底功能障碍性疾病的研究
- Author:
Li JIA
;
Bin SHI
;
Jiwen CAO
;
Jing JIANG
- Publication Type:Journal Article
- Keywords:
Elastin/GE;
Exons;
Variation (Genetics);
Pelvic floor/PP
- From:
Journal of Chinese Physician
2011;13(11):1459-1463
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo identify exon 20,24,25 mutations of ELN in patients with PFD.MethodsThe study was designed as case-control analysis.The PFD patients were from the second hospital of the Hebei medical university.30 PFD patients were examined and scored according to the Pelvic Organ Prolapse (POP-Q) classification,and the patients were divided into two groups,the low-grade ( A1 ) group and the high-grade (A2) group.20 non-PFD women were selected as the control group (B).Venous blood had been collected and DNA sequences were determined and compared with the standard sequence in NCBI GENEBANK.ResultsExon 20 114 G ｜ A mutation was found in PFD patients,which can induce protein structure change.There were seven cases in the A2 group and one in the B group; it had statistically different between two groups ( P ＜0.05).Exon 24 81C | G mutation was found in the trial group,it had no statistically difference between two groups ( P ＞ 0.05 ).None mutation of Exon 25 was found in all the groups.IVS20 17T｜ C mutation was found in the A2 group,which had statistically difference compared with control group and the low-grade group ( P ＜ 0.05 ).IVS24 69A | T mutation was found in the trial group,it had no statistical difference with control group ( P ＞ 0.05 ).ConclusionsMutations of elastingene exon 20,exon 24 were found in the PFD patients,which can induce the change of the primary protein structure.IVS20 17T | C mutation also existed in the trial group; the elastin gene mutation may be the reason that people are easy to suffer from PFD.
